Hutchinson Gilford Progeria Syndrome

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

Harlequin Ichthyosis, also known as Harlequin syndrome, is a rare genetic skin disorder where the epidermis layer of thin skin is thicker than normal. This disorder is present at birth and is not gender specific. Someone with the disorder would receive a mutated version of the ABCA12 gene from both parents; however, the parents show no signs or symptoms of this genetic mutation. The gene, where the mutation is found present, is responsible for making proteins that are used in the process of normal skin cell development. Because of the mutation, the epidermis endures abnormal development and hard, thick plates of skin are produced.

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

They went to Washington to get money and help from Congress. While there, they got lucky and met Dr. Francis S. Collins and his wife Diane Baker. They agreed to help Sam and his family. They started at Chromosome 1 for answers. Dr. Brown already treated twin boys with troublesome chromosomes. The chromosomes split, turned over, and reattached themselves. This made them find flaws in skin cells. They narrowed it down to a specific spot on the chromosome. Next, they went online to find what genes were in that spot. They realized it was lamin A. This protein can sometimes lead to rare conditions and other problems. The researchers discussed the results together and tested patients. They came to the conclusion that the lamin A was the problem and named the protein progerin. They looked through reports and realized the protein was found in one of Collins’s own patients, Meg Casey. Collins realized she did not have progeria after all. She had mandibuloacral dysplasia

In, Hutchinson-Gilford Progeria syndrome: Substance from broccoli can moderate defects, the author discusses an interesting new discovery made by scientists. Apparently a substance found in broccoli has been shown to help patients diagnosed with HGPS, or Hutchinson-Gilford Progeria syndrome reactivate protein breakdown, which, in reaction, reduces disease related-defects caused by HGPS. Patients with HGPS have a protein known as progerin, which is not functional but is synthesized inside the body. This causes the cells to age prematurely. This, in turn, causes patients to suffer diseases common with the elderly, like atherosclerosis, heart attacks, and strokes. While researching this disease, scientists found that even healthy cells carry progerin,

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

The growth rate is slower than other children that grow normally. Children with progeria syndrome are much shorter and weigh less than the normal growing children their age. Children 9-24 months start to experience growth delays. They have disproportion of a small face compared to the head, an undeveloped jaw, crowded teeth, small eyes, and a small nose. By age two the child experience hair, eyebrow, and eyelashes being loss and replaced by light hair that cannot be visible. Also they can have hip dislocations, strokes, heart attacks, prominent veins on scalp, loss of fat beneath the skin, and skeletal defects. Average die at age thirteen due to heart disease but could range to about eight to twenty one years of

How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.

Nuclear Lamina is a mesh like network that lines the nuclear membrane and provides architectural support 2. Lamin proteins are important for cellular structure as well as cellular organization and because of this, functioning lamin proteins are vital in proper expression of genes 1. When mutated, lamin proteins lead to multiple degenerative diseases related to premature aging and diseases like progeria and muscular dystrophy. Although comprehensive research has been done on mutant lamin proteins, the relationship between genotypes and phenotypes are poorly understood 2. This proposal aims to analyze the different genotypic and phenotypic effects by

Now that scientists know that progeria is usually caused by a change of one letter in the billions of letters in DNA, that change can be seen using a genetic testing. During the genetic sequencing, the gene is “decoded” and its sequence is determined letter by letter (www.progeriaresearch.org). With only sixty-eight people reported in the world with this disease, progeria is caused by a change in the DNA in the gene called LMNA. The LMNA gene produces a protein called Lamin A, which structure holds the nucleus of a cell together. Researchers came to the belief that with the defective Lamin A protein, it makes the nucleus unstable leading to the rapid aging.

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,